Canonical Allele Identifier: CA120057
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9014
dbSNP Id: rs137852683

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232648T>C , CM000667.2:g.173232648T>C GRCh38
NC_000005.9:g.172659651T>C , CM000667.1:g.172659651T>C GRCh37
NC_000005.8:g.172592257T>C NCBI36
NG_013340.1:g.7665A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.896A>G MANE Select ENSP00000327758.4:p.Asp299Gly
ENST00000329198.4:c.896A>G ENSP00000327758.4:p.Asp299Gly
NM_001166175.1:c.*849A>G NP_001159647.1:n.*849A>G
NM_001166176.1:c.*695A>G NP_001159648.1:n.*695A>G
NM_004387.3:c.896A>G NP_004378.1:p.Asp299Gly
NM_004387.4:c.896A>G MANE Select NP_004378.1:p.Asp299Gly
NM_001166175.2:c.*849A>G NP_001159647.1:n.*849A>G
NM_001166176.2:c.*695A>G NP_001159648.1:n.*695A>G